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Hane Lee

Showing results (21-30 of 134) with videos related to

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Journal of Molecular Neuroscience : MN|December 25, 2016
A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A VariantJihane N Benhammou, Jennifer Phan, Hane Lee, et al.
Molecular Genetics and Metabolism Reports|April 14, 2020
Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndromeShahram Yazdani, Anish Badjatiya, Naghmeh Dorrani, et al.
Annals of Neurology|July 17, 2016
Truncating mutations in APP cause a distinct neurological phenotypeSteven Klein, Alexander Goldman, Hane Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 11, 2014
Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratorySamuel P Strom, Hane Lee, Kingshuk Das, et al.
European Journal of Medical Genetics|January 2, 2016
Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencingNatalia Babkina, Joshua L Deignan, Hane Lee, et al.
European Journal of Human Genetics : EJHG|April 23, 2015
Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disordersRobert Brown, Hane Lee, Ascia Eskin, et al.
American Journal of Human Genetics|June 15, 2006
Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failureArnaud Lacombe, Hane Lee, Laila Zahed, et al.
Plos Genetics|February 4, 2010
U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell lineMichael James Clark, Nils Homer, Brian D O'Connor, et al.
Journal of Medical Case Reports|May 2, 2026
A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case ReportAtefeh Mir, Zahra Abbasi, Yongjun Song, et al.
Plos Genetics|May 17, 2018
Correction: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell LineMichael James Clark, Nils Homer, Brian D O'Connor, et al.
Pageof 14

Showing results (21-30 of 134) with videos related to

Sort By:
Pageof 14
Journal of Molecular Neuroscience : MN|December 25, 2016
A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A VariantJihane N Benhammou, Jennifer Phan, Hane Lee, et al.
Molecular Genetics and Metabolism Reports|April 14, 2020
Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndromeShahram Yazdani, Anish Badjatiya, Naghmeh Dorrani, et al.
Annals of Neurology|July 17, 2016
Truncating mutations in APP cause a distinct neurological phenotypeSteven Klein, Alexander Goldman, Hane Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 11, 2014
Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratorySamuel P Strom, Hane Lee, Kingshuk Das, et al.
European Journal of Medical Genetics|January 2, 2016
Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencingNatalia Babkina, Joshua L Deignan, Hane Lee, et al.
European Journal of Human Genetics : EJHG|April 23, 2015
Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disordersRobert Brown, Hane Lee, Ascia Eskin, et al.
American Journal of Human Genetics|June 15, 2006
Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failureArnaud Lacombe, Hane Lee, Laila Zahed, et al.
Plos Genetics|February 4, 2010
U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell lineMichael James Clark, Nils Homer, Brian D O'Connor, et al.
Journal of Medical Case Reports|May 2, 2026
A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case ReportAtefeh Mir, Zahra Abbasi, Yongjun Song, et al.
Plos Genetics|May 17, 2018
Correction: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell LineMichael James Clark, Nils Homer, Brian D O'Connor, et al.
Pageof 14